Hepatomegaly, and Dehydration

Diseases related with Hepatomegaly and Dehydration

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Dehydration that can help you solving undiagnosed cases.

Top matches:

In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015).For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (OMIM ).

DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2 Is also known as desiccytosis gardos|xerocytosis gardos

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Jaundice
  • Hepatosplenomegaly


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2

Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary StomatocytosisDehydrated hereditary stomatocytosis-2 (DHS2 ) is caused by mutation in the KCNN4 gene (OMIM ) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2 ), is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35. Cryohydrocytosis (CHC ) is caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN ) is caused by mutation in the SLC2A1 gene (OMIM ) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST ) is caused by mutation in the RHAG gene (OMIM ) on chromosome 6p12.See {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. ReviewsDelaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis (OMIM ); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 Is also known as pseudohyperkalemia, familial, 1, due to red cell leak|pshk1|dhs|dehydrated hereditary stomatocytosis|xerocytosis, hereditary|desiccytosis, hereditary|pseudohyperkalemia edinburgh

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.

ISOVALERIC ACIDEMIA Is also known as ivd deficiency|isovaleric acid coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOVALERIC ACIDEMIA

Other less relevant matches:

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA Is also known as methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type|vitamin b12-responsive methylmalonic aciduria type cbla|methylmalonic acidemia, cbla type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs|potassium-sodium disorder of erythrocyte

Related symptoms:

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as vlcadd|vlcad deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.

3-HYDROXY-3-METHYLGLUTARIC ACIDURIA Is also known as hydroxymethylglutaric aciduria|hmg-coa lyase deficiency|3-hydroxy-3-methylglutaryl-coa lyase deficiency|hmgcl deficiency|hl deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity
  • Anemia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Top 5 symptoms//phenotypes associated to Hepatomegaly and Dehydration

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Lethargy Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Dehydration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Coma Global developmental delay Splenomegaly Hyperammonemia Metabolic acidosis Muscular hypotonia Respiratory distress Aciduria Failure to thrive Generalized hypotonia Acidosis Thrombocytopenia Pancytopenia Reticulocytosis Jaundice Hyperglycinemia Neutropenia Methylmalonic aciduria Ketonuria Hepatosplenomegaly Hyperbilirubinemia Stomatocytosis Hemolytic anemia Methylmalonic acidemia Pallor Fever Diarrhea Edema

Rare Symptoms - Less than 30% cases

Organic aciduria Stroke Renal insufficiency Feeding difficulties in infancy Pancreatitis Ketosis Homocystinuria Decreased adenosylcobalamin Intellectual disability Encephalopathy Abnormality of mitochondrial metabolism Abdominal pain Hepatic steatosis Cardiomyopathy Irritability Decreased plasma carnitine Dicarboxylic aciduria Decreased methylmalonyl-CoA mutase activity Nephropathy Increased mean corpuscular hemoglobin concentration Chronic hemolytic anemia Spherocytosis Cholelithiasis Intermittent jaundice Abnormality of the liver Esophageal varix Congenital hemolytic anemia Respiratory failure Fatigue Increased intracellular sodium Ventricular septal defect Dystonia Micrognathia Anorexia Respiratory insufficiency Choreoathetosis Abnormality of movement Nausea and vomiting Immunodeficiency Atrial septal defect Hypertension Increased red cell hemolysis by shear stress Optic atrophy Hyperuricemia Spasticity Myoclonus Hypoglycemia EEG abnormality Abnormality of the cerebral white matter Prolonged neonatal jaundice Apathy Excessive daytime somnolence Congestive heart failure Recurrent hypoglycemia Acute pancreatitis Glutaric aciduria Nonketotic hypoglycemia 3-Methylglutaric aciduria Increased level of hippuric acid in urine Increased level of 3-hydroxy-3-methylglutaric acid in urine Dysarthria Abnormality of the kidney Dilatation Biliary tract abnormality Atelectasis Cholangitis Congenital hepatic fibrosis Pancreatic cysts Hepatic cysts Tubulointerstitial fibrosis Portal fibrosis Multiple renal cysts Hypersplenism Hematemesis Potter facies Periportal fibrosis Hypoplasia of the ear cartilage Azotemia Chronic lung disease Enlarged kidney Macrotia Oligohydramnios Low-set, posteriorly rotated ears Hepatocellular necrosis Scarring Stage 5 chronic kidney disease Pulmonary hypoplasia Renal cyst Depressed nasal ridge Portal hypertension Cholestasis Abnormal lung morphology Hepatic fibrosis Renal hypoplasia/aplasia Chronic kidney disease Polycystic kidney dysplasia Neonatal sepsis Hypoketotic hypoglycemia Exercise-induced myoglobinuria Episodic ketoacidosis Abnormality of the mitochondrion Ataxia Elevated hepatic transaminase Muscular dystrophy Ascites Hepatitis Limb-girdle muscular dystrophy Hyperkalemia Pericardial effusion Thromboembolism Increased serum ferritin Tremor Generalized edema Cerebellar hemorrhage Hyperglycinuria Anisopoikilocytosis Hemoglobinuria Recurrent thromboembolism Pyropoikilocytosis Schistocytosis Compensated hemolytic anemia Portal vein thrombosis Antiphospholipid antibody positivity Bone marrow hypocellularity Abnormal myelination Leukopenia Ischemic stroke Ketoacidosis Gastritis Cerebral edema Elliptocytosis Pain Rigidity Macrocytic anemia Hypertrophic cardiomyopathy Hepatic encephalopathy Skeletal myopathy Increased mean corpuscular volume Exercise-induced hemolysis Myoglobinuria Rhabdomyolysis Infantile muscular hypotonia Tachypnea Cardiac arrest Progressive muscle weakness Cardiomegaly Sudden cardiac death Hepatic failure Acanthocytosis Myalgia Respiratory tract infection Anisocytosis Cough Lactic acidosis Hydrops fetalis Brittle hair Pulmonary fibrosis Increased antibody level in blood Poikilocytosis Elevated serum creatine phosphokinase Sideroblastic anemia Increased red cell osmotic fragility Muscle weakness Normocytic anemia Myopathy Arrhythmia Absence of renal corticomedullary differentiation


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